A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5923546



Internal ID22698773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147905772..147914427hg38UCSC Ensembl
chr7:147602864..147611519hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388656
hg198656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438110
Samples
Known GenesCNTNAP2, MIR548F3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5923546
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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